Unexplained kidney failure in young people
Gene: HPSE2EnsemblGeneIds (GRCh38): ENSG00000172987
EnsemblGeneIds (GRCh37): ENSG00000172987
OMIM: 613469, Gene2Phenotype
HPSE2 is in 6 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 4 Aug 2016, 1:42 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert Review
- Phenotypes
-
- Urofacial syndrome 1 236730
- OMIM
- 613469
- Clinvar variants
- Variants in HPSE2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: HPSE2 were changed from Urofacial syndrome 1 236730 to Urofacial syndrome 1 236730
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for HPSE2 were set to Urofacial syndrome 1 236730
Set publications
Sarah Leigh (Genomics England Curator)Publications for HPSE2 were set to 20560210; 20560209
Upload gene information
Sarah Leigh (Genomics England Curator)HPSE2 was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for HPSE2 were set to Urofacial Syndrome 36730; Congenital bladder disease: dyssynergic, high pressure bladder
Created
Sarah Leigh (Genomics England Curator)HPSE2 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)HPSE2 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert Review,Expert Review Green